Irish team gets £2.3m to study birth defects of nervous system

The number of birth defects of the central nervous system that occur in the State is higher that anywhere else, it was revealed…

The number of birth defects of the central nervous system that occur in the State is higher that anywhere else, it was revealed yesterday at the signing of a £2.3 million contract into research aimed at their prevention.

The contract, one of the biggest awarded in the State, was given to the Health Research Board (HRB) and Trinity College Dublin by the US National Institute of Child Health and Human Development.

The Minister for Health, Mr Cowen, said neural tube impairments, which cause babies to be born with birth defects, affected about one in 600 babies born here. "About half of the affected babies die at birth and the majority of the survivors suffer lifelong moderate or severe handicap. It is indicative of the quality of research to date that a $3 million contract is being signed here today."

The grant will finance a collaborative three-year study focusing mainly on the causes and prevention of birth defects of the central nervous system such as spina bifida.

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Mr Cowen said it was also testimony to the dedication of researchers that they had persevered in their research to make an important breakthrough by identifying the first genetic risk factor for spina bifida; an enzyme responsible for about one-eighth of spina bifida cases in Ireland.

Of the 75 babies or so born each year with these conditions in Ireland, 45 die before or soon after birth; 30 survive with the condition, and most have lifelong disabilities and handicaps.

The principal investigators on the project are Dr Peadar Kirke, at the Health Research Board; Prof John Scott at Trinity College; and Dr James Mills at the US Nat ional Institute of Child Health and Human Development. The team has produced significant findings in earlier phases of this research, funded by previous contracts from the NICHD. They found that taking a folic acid vitamin supplement before conception prevented about 75 per cent of these defects.

"Shortly after this discovery they identified that a gene defect was associated with spina bifida. They established that this aberrant gene explains about 12 per cent of spina bifida in Ireland," said Dr Ruth Barrington, chief executive of the Health Research Board.

"The purpose of the research to be funded by this contract is to find other genes that may be involved and to examine the possible relationships between those genes and spina bifida."

The research, she said, required a large number of study subjects to be successful. Most of the participants had been recruited through the Irish Association for Spina Bifida and Hydrocephalus. This recruitment recently extended to Northern Ireland and the sister association there. About 27 staff at Trinity College and the HRB will be employed on research funded by this and earlier contracts.